Incidental Mutation 'R1596:Ramp1'
ID 175777
Institutional Source Beutler Lab
Gene Symbol Ramp1
Ensembl Gene ENSMUSG00000034353
Gene Name receptor (calcitonin) activity modifying protein 1
Synonyms 9130218E19Rik
MMRRC Submission 039633-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1596 (G1)
Quality Score 82
Status Validated
Chromosome 1
Chromosomal Location 91107544-91152918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91151022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 129 (V129A)
Ref Sequence ENSEMBL: ENSMUSP00000095253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097648]
AlphaFold Q9WTJ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000097648
AA Change: V129A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095253
Gene: ENSMUSG00000034353
AA Change: V129A

DomainStartEndE-ValueType
Pfam:RAMP 37 146 1.1e-49 PFAM
Meta Mutation Damage Score 0.3981 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.7%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit high systolic blood pressure due to a disruption in vasodilatory regulation as well as significantly increased serum levels of proinflammatory cytokines following LPS administration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik A G 15: 37,426,018 (GRCm39) probably benign Het
Abca8a T A 11: 109,958,886 (GRCm39) Y745F possibly damaging Het
Abl1 A G 2: 31,680,350 (GRCm39) N316S probably damaging Het
Ackr2 T C 9: 121,738,278 (GRCm39) F218L probably damaging Het
Adam6b T A 12: 113,454,646 (GRCm39) Y488N probably damaging Het
Arhgap10 A G 8: 78,177,326 (GRCm39) I103T possibly damaging Het
Atm A G 9: 53,364,678 (GRCm39) V2669A probably damaging Het
Atp10b A G 11: 43,126,594 (GRCm39) K1117E probably damaging Het
Brinp3 T C 1: 146,390,520 (GRCm39) V22A probably benign Het
Casp8 G T 1: 58,870,833 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,153,930 (GRCm39) K626N possibly damaging Het
Clcn6 T A 4: 148,107,836 (GRCm39) S193C probably damaging Het
Col11a1 C T 3: 113,946,262 (GRCm39) probably benign Het
Csn1s2b T A 5: 87,966,917 (GRCm39) probably benign Het
Cst5 T C 2: 149,247,329 (GRCm39) V15A unknown Het
Cttnbp2 A G 6: 18,408,591 (GRCm39) F1010S probably damaging Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dsg1c A G 18: 20,415,104 (GRCm39) Y667C probably damaging Het
Ep400 A T 5: 110,856,727 (GRCm39) probably benign Het
Fam83c C T 2: 155,672,982 (GRCm39) probably null Het
Fbxw20 C T 9: 109,050,368 (GRCm39) C419Y probably damaging Het
Fgd2 G A 17: 29,595,904 (GRCm39) V521I probably benign Het
Frrs1 A G 3: 116,676,848 (GRCm39) probably benign Het
Gli3 C A 13: 15,900,056 (GRCm39) Q1148K possibly damaging Het
Hdac5 G T 11: 102,095,482 (GRCm39) probably null Het
Ice1 C T 13: 70,753,014 (GRCm39) R1024H possibly damaging Het
Irak3 A T 10: 120,018,451 (GRCm39) I99N probably damaging Het
Klhl31 A G 9: 77,557,356 (GRCm39) D24G probably damaging Het
Lrba C T 3: 86,257,611 (GRCm39) Q1292* probably null Het
Map1a C T 2: 121,120,246 (GRCm39) A44V probably benign Het
Mbd2 T A 18: 70,749,703 (GRCm39) M306K probably damaging Het
Mrc1 C T 2: 14,253,701 (GRCm39) H241Y possibly damaging Het
Mrgprg A G 7: 143,318,431 (GRCm39) F227S possibly damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Ncf4 G A 15: 78,134,637 (GRCm39) E30K probably damaging Het
Nlrp4c C A 7: 6,069,777 (GRCm39) D559E probably benign Het
Nxpe4 T A 9: 48,307,855 (GRCm39) W320R probably damaging Het
Or10a3n T A 7: 108,493,086 (GRCm39) H176L probably damaging Het
Or52n4b T A 7: 108,144,290 (GRCm39) M184K possibly damaging Het
Or6z5 T C 7: 6,477,514 (GRCm39) L135P probably damaging Het
Pdzrn3 A G 6: 101,127,966 (GRCm39) V900A probably benign Het
Prcp T C 7: 92,567,042 (GRCm39) probably benign Het
Prkaa2 A T 4: 104,893,526 (GRCm39) D474E probably damaging Het
Prl3a1 A G 13: 27,443,600 (GRCm39) probably benign Het
Ptpra T A 2: 130,386,872 (GRCm39) Y624N probably damaging Het
Reep1 G T 6: 71,733,421 (GRCm39) probably null Het
Robo3 C T 9: 37,335,928 (GRCm39) probably null Het
Sapcd2 T A 2: 25,266,422 (GRCm39) I403N probably damaging Het
Sdk2 T A 11: 113,729,435 (GRCm39) probably benign Het
Serpinb3a T C 1: 106,974,904 (GRCm39) M210V probably benign Het
Slc45a3 T A 1: 131,909,267 (GRCm39) I488N probably damaging Het
Tnrc6c C T 11: 117,648,867 (GRCm39) P1513S probably damaging Het
Trank1 T A 9: 111,195,358 (GRCm39) H1127Q possibly damaging Het
Trim67 T C 8: 125,552,878 (GRCm39) V660A probably damaging Het
Ubash3b A G 9: 40,942,793 (GRCm39) I233T probably benign Het
Unkl A G 17: 25,424,707 (GRCm39) R245G probably null Het
Other mutations in Ramp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01737:Ramp1 APN 1 91,150,821 (GRCm39) splice site probably benign
R0049:Ramp1 UTSW 1 91,124,592 (GRCm39) missense possibly damaging 0.90
R0049:Ramp1 UTSW 1 91,124,592 (GRCm39) missense possibly damaging 0.90
R0256:Ramp1 UTSW 1 91,124,641 (GRCm39) splice site probably benign
R1812:Ramp1 UTSW 1 91,124,579 (GRCm39) missense probably damaging 0.99
R4330:Ramp1 UTSW 1 91,151,067 (GRCm39) missense possibly damaging 0.75
R4331:Ramp1 UTSW 1 91,151,067 (GRCm39) missense possibly damaging 0.75
R4681:Ramp1 UTSW 1 91,124,511 (GRCm39) missense probably benign 0.33
R7292:Ramp1 UTSW 1 91,124,499 (GRCm39) missense probably benign 0.00
R8941:Ramp1 UTSW 1 91,134,137 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTGTCCAGACAAAGCTGAGTCCC -3'
(R):5'- GCCACTCTCAAGTCCTGTGCTAAC -3'

Sequencing Primer
(F):5'- TCTTTGTATCCACAGGAGCTATG -3'
(R):5'- AAGTCCTGTGCTAACTAGGC -3'
Posted On 2014-04-24